Linked Data
gnomAD v4:
1-212883353-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883353C>G , CM000663.2:g.212883353C>G | GRCh38 |
| NC_000001.10:g.213056695C>G , CM000663.1:g.213056695C>G | GRCh37 |
| NC_000001.9:g.211123318C>G | NCBI36 |
| NG_028131.1:g.30099C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1025-18C>G MANE Select | ENSP00000355938.4:n.1025-18C>G | |
| ENST00000366971.8:c.1025-18C>G | ENSP00000355938.4:n.1025-18C>G | |
| ENST00000419102.1:c.421-18C>G | ||
| ENST00000474693.1:n.250-18C>G | ||
| NM_014053.3:c.1025-18C>G | NP_054772.1:n.1025-18C>G | |
| XM_011509446.1:c.1025-18C>G | XP_011507748.1:n.1025-18C>G | |
| XR_247024.1:n.1199-18C>G | ||
| XR_426771.1:n.1326-18C>G | ||
| XM_011509446.3:c.1025-18C>G | XP_011507748.1:n.1025-18C>G | |
| XR_247024.3:n.1199-18C>G | ||
| NM_014053.4:c.1025-18C>G MANE Select | NP_054772.1:n.1025-18C>G |